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Scientists have highlighted that a particular gene (SARM1) is a key driver of the damage that ultimately leads to impaired vision (and sometimes blindness), and has shown in a disease model that after a chemical initiates a series of dysfunctions , deletion of this gene protects vision, a dysfunction that mimics many eye diseases
This means that therapies targeting inhibition of SARM1 activity could be the key to effective new options for treating a range of diseases that can have a devastating impact on quality of life, for many of which there are currently no treatment options available
Scientists led by Trinity College's School of Genetics and Microbiology have just published their findings in the International Journal of Molecular Science
Laura Finnegan, lead author of the paper and PhD student at Trinity College, said:
"In response to injury, SARM1 is involved in a process that causes the degeneration of specialized cells and their axons in the eye
"Vision impairment and blindness are one of the main motivations for our quest to better understand genetic causes and potentially develop life-changing treatments, which are extremely debilitating for millions of people worldwide
Jane Farrar, professor of genetics and microbiology at Trinity College and senior author of the paper, said:
"Another important finding was that visual function was preserved when visual function was reassessed 4 months after SARM1 removal, suggesting that this benefit can persist over time
"We still have some way to go before this therapy becomes available, but this work represents an important step that points the way forward for a range of optic nerve-related diseases -- from maternal Inherited diseases, such as Leber's optic neuropathy to the more common form of glaucoma - offer hope that one day it can be cured with this therapy
SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration